RIOX1
protein-codingribosomal oxygenase 1, the group of Iron (II) and 2-oxoglutarate dependent oxygenases
Gene summary
Enables peptidyl-histidine dioxygenase activity and protein demethylase activity. Predicted to be involved in negative regulation of DNA-templated transcription and negative regulation of osteoblast differentiation. Located in nucleolus. [provided by Alliance of Genome Resources, Jun 2026]
- C14orf169
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~2.5 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to RIOX1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_024644.5. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 1 | 1 | 2 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 1 | 1 | 1 | 3 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_078920.2 | 1 | MANE Select | |
| Ensembl | ENSP00000477507.1 | 1 | MANE Select | |
| Ensembl | ENSP00000795266.1 | 1 | Standard | |
| Ensembl | ENSP00000795267.1 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- histone H3-K4 demethylation
- negative regulation of osteoblast differentiation
- negative regulation of transcription, DNA-templated
- oxidation-reduction process
- histone H3-K36 demethylation
Molecular Function
- iron ion binding
- protein binding
- 2-oxoglutarate-dependent dioxygenase activity
- histone demethylase activity (H3-K4 specific)
- histone demethylase activity (H3-K36 specific)
Cellular Component
- nucleus
- nucleoplasm
- nucleolus
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase. Specifically demethylates 'Lys-4' (H3K4me) and 'Lys-36' (H3K36me) of histone H3, thereby playing a central role in histone code. Preferentially demethylates trimethylated H3 'Lys-4' (H3K4me3) and monomethylated H3 'Lys-4' (H3K4me1) residues, while it has weaker activity for dimethylated H3 'Lys-36' (H3K36me2). Also catalyzes the hydroxylation of 60S ribosomal protein L8 on 'His-216'. Acts as a regulator of osteoblast differentiation via its interaction with SP7/OSX by demethylating H3K4me and H3K36me, thereby inhibiting SP7/OSX-mediated promoter activation (By similarity). May also play a role in ribosome biogenesis and in the replication or remodeling of certain heterochromatic region. Participates in MYC- induced transcriptional activation. {ECO:0000250, ECO:0000269|PubMed:14742713, ECO:0000269|PubMed:17308053, ECO:0000269|PubMed:23103944}.;